FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.24  |  FHIR Version n/a  User: [n/a]

190745006: Galactosemia (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
293192017 Galactosaemia en Synonym Active Entire term case insensitive SNOMED CT core module
293193010 Galactosemia en Synonym Active Entire term case insensitive SNOMED CT core module
574365010 Galactosemia (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

5 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Galactosemia Is a Disorder of galactose metabolism true Inferred relationship Existential restriction modifier
Galactosemia Finding site Body system structure false Inferred relationship Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
Deficiency of UTP-hexose-1-phosphate uridylyltransferase Is a False Galactosemia Inferred relationship Existential restriction modifier
Uridine diphosphate glucose-4-epimerase deficiency Is a True Galactosemia Inferred relationship Existential restriction modifier
Other specified galactosemia Is a False Galactosemia Inferred relationship Existential restriction modifier
Galactosemia NOS Is a False Galactosemia Inferred relationship Existential restriction modifier
Galactosemia screening Has focus True Galactosemia Inferred relationship Existential restriction modifier 2
Deficiency of uridine triphosphate-hexose-1-phosphate uridylyltransferase Is a False Galactosemia Inferred relationship Existential restriction modifier
Perinatal jaundice due to galactosemia Due to True Galactosemia Inferred relationship Existential restriction modifier 1
Deficiency of uridine diphosphate-glucose-hexose-1-phosphate uridylyltransferase Is a True Galactosemia Inferred relationship Existential restriction modifier
Family history of galactosemia Associated finding True Galactosemia Inferred relationship Existential restriction modifier 1
Deficiency of galactose mutarotase Is a True Galactosemia Inferred relationship Existential restriction modifier
Other specified galactosemia (disorder) Is a False Galactosemia Inferred relationship Existential restriction modifier
Galactosemia NOS (disorder) Is a False Galactosemia Inferred relationship Existential restriction modifier

This concept is not in any reference sets

Back to Start